present in Gene: ATAD3A
present in Chromosome: 1
Position on Chromosome: 1529299
Alleles of this Variant: C/T
rs1057517686 in
ATAD3A gene and
Cardiomyopathies
PMID 27640307 2016 Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
rs1057517686 in
ATAD3A gene and
Global developmental delay
PMID 27640307 2016 We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
rs1057517686 in
ATAD3A gene and
Optic Atrophy
PMID 27640307 2016 We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy.
rs1057517686 in
ATAD3A gene and
Peripheral Neuropathy
PMID 27640307 2016 Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.